(Q36217252)

English

X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).

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Europe PubMed Central

PMC publication ID

12 August 2017

X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2). (English)

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

X-linked sideroblastic anemia

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author name string

David F Bishop

1

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Vassili Tchaikovskii

2

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

A Victor Hoffbrand

3

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Marie E Fraser

4

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Steven Margolis

5

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Europe PubMed Central

PMC publication ID

12 August 2017

language of work or name

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publication date

27 June 2012

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Europe PubMed Central

PMC publication ID

12 August 2017

Journal of Biological Chemistry

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Europe PubMed Central

PMC publication ID

12 August 2017

287

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

34

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

28943-28955

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3436539/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Molecular enzymology of 5-aminolevulinate synthase, the gatekeeper of heme biosynthesis

1 reference

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1 October 2017

Hereditary sideroblastic anemia: pathophysiology and gene mutations

1 reference

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1 October 2017

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

1 reference

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1 October 2017

Targeting the active site gate to yield hyperactive variants of 5-aminolevulinate synthase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Recent advances in the understanding of inherited sideroblastic anaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: complex formation with succinyl-CoA synthetase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Aminolevulinate synthase: lysine 313 is not essential for binding the pyridoxal phosphate cofactor but is essential for catalysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Pilot scale purification of α-galactosidase A from Cohn Fraction IV-1 of human plasma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

1 October 2017

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

29 June 2018

Folding pathway of the pyridoxal 5'-phosphate C-S lyase MalY from Escherichia coli.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

29 June 2018

The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

29 June 2018

X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

29 June 2018

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

22 September 2018

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

22 September 2018

Iron overload due to X-linked sideroblastic anemia in an African American man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436539

22 September 2018

Heme biosynthesis in mammalian systems: evidence of a Schiff base linkage between the pyridoxal 5'-phosphate cofactor and a lysine residue in 5-aminolevulinate synthase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.306423

21 January 2018

Assignment1 of human putative tumor suppressor genes ST13 (alias SNC6) and ST14 (alias SNC19) to human chromosome bands 22q13 and 11q24-->q25 by in situ hybridization

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.306423

21 January 2018

The carboxyl-terminal region of erythroid-specific 5-aminolevulinate synthase acts as an intrinsic modifier for its catalytic activity and protein stability

1 reference

https://pubmed.ncbi.nlm.nih.gov/22740690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel endoproteolytic processing activity in mitochondria of erythroid cells and the role in heme synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22740690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apparent ATP-linked succinate thiokinase activity and its relation to nucleoside diphosphate kinase in mitochondrial matrix preparations from rabbit

1 reference

https://pubmed.ncbi.nlm.nih.gov/22740690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase

1 reference

https://pubmed.ncbi.nlm.nih.gov/22740690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromato

1 reference

https://pubmed.ncbi.nlm.nih.gov/22740690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pre-steady-state reaction of 5-aminolevulinate synthase. Evidence for a rate-determining product release

1 reference

https://pubmed.ncbi.nlm.nih.gov/22740690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22740690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine

1 reference

https://pubmed.ncbi.nlm.nih.gov/22740690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of alpha-aminoketones and the metabolism of aminoacetone

1 reference

https://pubmed.ncbi.nlm.nih.gov/22740690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene symbol: ALAS2. Disease: sideroblastic anaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22740690

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M111.306423

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

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